Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

• Main Authors: Lorenzo Iughetti (Author), Laura Lucaccioni (Author), Patrizia Bruzzi (Author), Silvia Ciancia (Author), Elena Bigi (Author), Simona Filomena Madeo (Author), Barbara Predieri (Author), Florence Roucher-Boulez (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometime...